Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL8A1_chr3_99633594_99804217	99678582	T T	TTTGTTGT others(9): Show TTTGTTGTTGTTGTTTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	262	0.0038	16	c.-12 others(37): Show c.-129+39926_-129+39941dupTGTTGTTTGTTGTTGT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773815	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0086 a0001c0001t0021g0086	1	262	0.0038	16	c.-3- others(33): Show c.-3-16864_-3-16863insGTATATATATATATAT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A1_chr6_70211126_70308084	70215912	A A	AACACACA others(9): Show AACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18966.hp1 NA19064.hp2 HG02027.hp2 NA18966.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0207 a0001c0001t0002g0283 a0001c0001t0002g0176 a0001c0001t0002g0207 a0001c0001t0002g0283	3	362	0.0083	16	c.98 others(25): Show c.984_*985insGTGTGTGTGTGTGTGT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding		213		chr6	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0250 a0003c0003t0010g0250	1	362	0.0028	16	c.250 others(35): Show c.2504-1431_2504-1416dupTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(9): Show ATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	438	0.0023	16	c.-11 others(27): Show c.-1118_-1117insAAAATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AAATTATA others(9): Show AAATTATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03453.hp1 HG02055.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	438	0.0046	16	c.-39 others(27): Show c.-3926_-3925insATATATATATATAATT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AATTAATA others(9): Show AATTAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	438	0.0023	16	c.-39 others(27): Show c.-3926_-3925insATATATATATATTAAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321123	T T	TTATATAT others(9): Show TTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 NA19076.hp2 HG00735.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	438	0.0046	16	c.-39 others(27): Show c.-3927_-3926insTATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3838		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321158	T T	TATATATA others(9): Show TATATATATATATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02056.hp1 HG02083.hp1 others(2): Show HG01978.hp1 HG02056.hp1 HG02083.hp1 NA18946.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0042 a0002c0002t0001g0048 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0042 a0002c0002t0001g0048 a0002c0002t0001g0085	5	438	0.0114	16	c.-39 others(27): Show c.-3962_-3961insTTTTATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3873		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01978.hp1 HG03831.hp2 others(2): Show HG01928.hp2 HG01978.hp1 HG03831.hp2 NA18953.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 others(2): Show a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0258	5	388	0.0129	16	c.148 others(33): Show c.148+2201_148+2202insAAAATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	388	0.0026	16	c.148 others(33): Show c.148+2201_148+2202insAATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(9): Show GAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18953.hp1 NA18949.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0047 a0001c0001t0003g0030 a0001c0001t0003g0047	2	388	0.0052	16	c.292 others(31): Show c.292+378_292+379insGAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18947.hp1 NA18978.hp2 others(4): Show NA18939.hp1 NA18947.hp1 NA18978.hp2 NA19004.hp2 NA19055.hp2 NA19068.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0004 a0001c0001t0003g0022 a0001c0001t0003g0026 others(3): Show a0001c0001t0003g0004 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0011g0035	7	388	0.0180	16	c.292 others(31): Show c.292+378_292+379insGAGAGAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3631723	A A	ACTCGGAG others(9): Show ACTCGGAGGGGACTCTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0329 a0002c0006t0001g0329	1	378	0.0027	16	c.203 others(33): Show c.203-5799_203-5784dupACTCTGCTCGGAGGGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(9): Show GATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01256.hp2 others(22): Show HG00280.hp1 HG00735.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG02738.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp1 HG04228.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA19006.hp2 NA19064.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0004 a0001c0018 others(2): Show a0001c0003 a0001c0004 a0001c0018 a0002c0001 a0005c0019	a0001c0003t0005 a0001c0003t0013 a0001c0003t0016 others(14): Show a0001c0003t0005 a0001c0003t0013 a0001c0003t0016 a0001c0003t0038 a0001c0003t0067 a0001c0003t0133 a0001c0003t0153 a0001c0003t0154 a0001c0003t0166 a0001c0004t0005 a0001c0004t0038 a0001c0004t0039 a0001c0004t0174 a0001c0018t0167 a0002c0001t0049 a0002c0001t0150 a0005c0019t0170	a0001c0003t0005g0044 a0001c0003t0005g0153 a0001c0003t0005g0329 others(21): Show a0001c0003t0005g0044 a0001c0003t0005g0153 a0001c0003t0005g0329 a0001c0003t0013g0002 a0001c0003t0013g0165 a0001c0003t0016g0047 a0001c0003t0016g0328 a0001c0003t0038g0016 a0001c0003t0067g0187 a0001c0003t0133g0256 a0001c0003t0153g0091 a0001c0003t0154g0171 a0001c0003t0166g0046 a0001c0004t0005g0014 a0001c0004t0005g0112 a0001c0004t0038g0324 a0001c0004t0039g0173 a0001c0004t0039g0322 a0001c0004t0174g0248 a0001c0018t0167g0072 a0002c0001t0049g0048 a0002c0001t0049g0049 a0002c0001t0150g0159 a0005c0019t0170g0244	25	366	0.0683	16	c.78 others(27): Show c.7837_*7838insATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLEC12_chr18_311737_505701	319327	A A	AATATATA others(9): Show AATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0104 a0002c0001t0104	a0002c0001t0104g0220 a0002c0001t0104g0220	1	366	0.0027	16	c.71 others(25): Show c.717_*718insATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	717		chr18	TogoVar
COLEC12_chr18_311737_505701	319329	A A	AATATATA others(9): Show AATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0105 a0003c0002t0105	a0003c0002t0105g0251 a0003c0002t0105g0251	1	366	0.0027	16	c.71 others(25): Show c.715_*716insATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	715		chr18	TogoVar
COLEC12_chr18_311737_505701	319331	A A	AATATATA others(9): Show AATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01515.hp2 HG01978.hp2 others(1): Show HG01255.hp2 HG01515.hp2 HG01978.hp2 HG03831.hp2	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0001 a0003c0002 a0012c0024 a0002c0001 a0003c0002 a0012c0024	a0002c0001t0113 a0003c0002t0111 a0003c0002t0112 others(1): Show a0002c0001t0113 a0003c0002t0111 a0003c0002t0112 a0012c0024t0114	a0002c0001t0113g0149 a0003c0002t0111g0297 a0003c0002t0112g0121 others(1): Show a0002c0001t0113g0149 a0003c0002t0111g0297 a0003c0002t0112g0121 a0012c0024t0114g0151	4	366	0.0109	16	c.71 others(25): Show c.713_*714insATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	713		chr18	TogoVar
COLEC12_chr18_311737_505701	319333	A A	AATATATA others(9): Show AATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0117 a0002c0007t0117	a0002c0007t0117g0026 a0002c0007t0117g0026	1	366	0.0027	16	c.71 others(25): Show c.711_*712insATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	711		chr18	TogoVar
COLEC12_chr18_311737_505701	406515	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0041 a0003c0002t0041	a0003c0002t0041g0307 a0003c0002t0041g0307	1	366	0.0027	16	c.59- others(33): Show c.59-49009_59-48994dupTTTTTTTTTTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	497383	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp2 HG02258.hp1 HG01952.hp1 HG01952.hp2 HG02258.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0002c0001 a0008c0015 a0001c0003 a0002c0001 a0008c0015	a0001c0003t0092 a0002c0001t0046 a0008c0015t0229 a0001c0003t0092 a0002c0001t0046 a0008c0015t0229	a0001c0003t0092g0337 a0002c0001t0046g0015 a0008c0015t0229g0250 a0001c0003t0092g0337 a0002c0001t0046g0015 a0008c0015t0229g0250	3	366	0.0082	16	c.7+3 others(29): Show c.7+3109_7+3124dupACACACACACACACAC	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/9			chr18	TogoVar
COLEC12_chr18_311737_505701	502324	T T	TTTTTTTT others(9): Show TTTTTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0248 a0001c0005t0248	a0001c0005t0248g0357 a0001c0005t0248g0357	1	366	0.0027	16	c.-18 others(27): Show c.-1811_-1810insGAAAGAAAGAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1624		chr18	TogoVar
COLEC12_chr18_311737_505701	502328	T T	TTTTTTTT others(9): Show TTTTTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG02258.hp1 others(7): Show HG01192.hp1 HG02055.hp1 HG02258.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0005 a0002c0001 others(1): Show a0001c0003 a0001c0005 a0002c0001 a0003c0002	a0001c0003t0009 a0001c0003t0041 a0001c0003t0042 others(6): Show a0001c0003t0009 a0001c0003t0041 a0001c0003t0042 a0001c0003t0092 a0001c0003t0186 a0001c0005t0220 a0002c0001t0235 a0003c0002t0158 a0003c0002t0226	a0001c0003t0009g0157 a0001c0003t0009g0344 a0001c0003t0041g0050 others(7): Show a0001c0003t0009g0157 a0001c0003t0009g0344 a0001c0003t0041g0050 a0001c0003t0042g0343 a0001c0003t0092g0337 a0001c0003t0186g0339 a0001c0005t0220g0340 a0002c0001t0235g0336 a0003c0002t0158g0345 a0003c0002t0226g0338	10	366	0.0273	16	c.-18 others(27): Show c.-1815_-1814insGAAAGAAAGAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1628		chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183977804	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG03486.hp2 HG01891.hp2 HG02922.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0021 a0004c0022 a0001c0001 a0004c0021 a0004c0022	a0001c0001t0027 a0004c0021t0045 a0004c0022t0044 a0001c0001t0027 a0004c0021t0045 a0004c0022t0044	a0001c0001t0027g0028 a0004c0021t0045g0334 a0004c0022t0044g0335 a0001c0001t0027g0028 a0004c0021t0045g0334 a0004c0022t0044g0335	3	340	0.0088	16	c.374 others(31): Show c.374+605_374+606insCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	183977812	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG04204.hp1 NA18971.hp1 others(1): Show HG03041.hp1 HG04204.hp1 NA18971.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0001t0008 a0001c0002t0006 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0002t0006 a0002c0003t0003	a0001c0001t0007g0159 a0001c0001t0008g0087 a0001c0002t0006g0022 others(1): Show a0001c0001t0007g0159 a0001c0001t0008g0087 a0001c0002t0006g0022 a0002c0003t0003g0276	4	340	0.0118	16	c.374 others(31): Show c.374+582_374+597dupCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184031817	A A	ATCCTTCC others(9): Show ATCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01175.hp2 others(12): Show HG00738.hp1 HG01074.hp2 HG01175.hp2 HG01515.hp2 HG02083.hp1 HG02258.hp2 HG02280.hp1 HG02723.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 NA19072.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0012	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0008c0013 a0012c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0025 a0001c0002t0002 a0002c0003t0011 a0008c0013t0013 a0012c0017t0013	a0001c0001t0001g0238 a0001c0001t0005g0240 a0001c0001t0009g0314 others(10): Show a0001c0001t0001g0238 a0001c0001t0005g0240 a0001c0001t0009g0314 a0001c0001t0009g0317 a0001c0001t0010g0239 a0001c0001t0014g0024 a0001c0001t0019g0316 a0001c0001t0025g0023 a0001c0002t0002g0001 a0001c0002t0002g0241 a0002c0003t0011g0025 a0008c0013t0013g0113 a0012c0017t0013g0315	15	340	0.0441	16	c.263 others(33): Show c.263+5262_263+5277dupAGGAAGGAAGGAAGGA	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184037754	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	340	0.0029	16	c.-39 others(25): Show c.-398_-397insACACACACACACACAC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding		27		chr1	TogoVar
COMMD10_chr5_116080025_116298287	116140231	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02970.hp1 NA21309.hp2 HG00621.hp2 HG02970.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0191 a0001c0001t0001g0195 a0002c0003t0001g0051 a0001c0001t0001g0191 a0001c0001t0001g0195 a0002c0003t0001g0051	3	350	0.0086	16	c.510 others(33): Show c.510+6063_510+6078dupGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158495	T T	TCTCCGTC others(9): Show TCTCCGTCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0036 a0002c0003t0001g0036	1	350	0.0029	16	c.510 others(35): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01243.hp1 others(29): Show HG00733.hp1 HG00741.hp1 HG01243.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG02132.hp2 HG02165.hp2 HG02280.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 NA18961.hp1 NA19011.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0181 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0318 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0002g0070 a0001c0001t0002g0294 a0001c0001t0007g0289 a0001c0002t0003g0108 a0001c0002t0003g0109 a0002c0003t0001g0001 a0002c0003t0001g0012 a0002c0003t0001g0038 a0002c0003t0001g0055	32	350	0.0914	16	c.510 others(35): Show c.510+78330_510+78345dupGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA20905.hp2 HG03669.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0140 a0001c0002t0001g0136 a0001c0002t0001g0140	2	350	0.0057	16	c.510 others(35): Show c.510+78345_510+78346insGTGTGTGTGTGTGTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116241583	C C	CTTATGTA others(9): Show CTTATGTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0323 a0001c0002t0001g0182 a0001c0001t0001g0323 a0001c0002t0001g0182	2	350	0.0057	16	c.511 others(35): Show c.511-49930_511-49929insGTATTTATTTATTTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116241583	C C	CTTATTTA others(9): Show CTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	350	0.0029	16	c.511 others(35): Show c.511-49903_511-49888dupATTTATTTATTTATTT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116253781	G G	GGTATCAG others(9): Show GGTATCAGAATGTCTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 NA18906.hp2 others(1): Show HG02559.hp1 HG02622.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0195 a0001c0001t0001g0332 a0001c0001t0001g0334 others(1): Show a0001c0001t0001g0195 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0005g0194	4	350	0.0114	16	c.511 others(35): Show c.511-37735_511-37734insTATCAGAATGTCTTTG	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA19062.hp1 HG00438.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0253 a0002c0003t0001g0052 a0001c0001t0001g0253 a0002c0003t0001g0052	2	350	0.0057	16	c.31 others(27): Show c.3119_*3120insAAAAAAAAAAAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(9): Show AAAAAAAAAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18944.hp2 NA20300.hp2 NA18943.hp2 NA18944.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0042 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0042 a0002c0003t0001g0049 a0002c0003t0001g0050	3	350	0.0086	16	c.31 others(27): Show c.3119_*3120insAAAAAAAAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAT others(9): Show AAAAAAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0055 a0002c0003t0001g0055	1	350	0.0029	16	c.31 others(27): Show c.3119_*3120insAAAAAATAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD1_chr2_61900674_62141058	62019023	T T	TTCCCTCC others(9): Show TTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02055.hp1 others(12): Show HG01243.hp1 HG01261.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0263 others(12): Show a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0263 a0001c0001t0002g0237 a0001c0001t0002g0252 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0003t0001g0270 a0001c0003t0001g0272	15	286	0.0525	16	c.462 others(35): Show c.462+18049_462+18064dupCTCCCTCCCTCCCTCC	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19240.hp2 HG01358.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0191 a0001c0001t0001g0122 a0001c0001t0001g0191	2	286	0.0070	16	c.462 others(35): Show c.462+62901_462+62916dupATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	286	0.0035	16	c.463 others(35): Show c.463-40010_463-40009insATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62121371	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	286	0.0035	16	c.463 others(35): Show c.463-14449_463-14434dupAAAAAAAAAAAAAAAA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD7_chr20_32697699_32748467	32737379	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(143): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG00733.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0243 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0001g0372 a0001c0001t0002g0078 a0001c0001t0002g0269 a0001c0001t0004g0291 a0002c0002t0001g0077	146	400	0.3650	16	c.84+ others(31): Show c.84+5928_84+5929insCTTTTTTTTTTTTTTT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8			chr20	TogoVar
COMMD8_chr4_47445787_47468702	47447372	G G	GACACACA others(9): Show GACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00544.hp2 others(42): Show HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00735.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG03017.hp2 HG03130.hp1 HG03490.hp2 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19077.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0009 a0001c0001 a0001c0004 a0004c0009	a0001c0001t0001 a0001c0004t0002 a0004c0009t0007 a0001c0001t0001 a0001c0004t0002 a0004c0009t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0004t0002g0118 a0004c0009t0007g0137	45	396	0.1136	16	c.42 others(27): Show c.4272_*4273insGTGTGTGTGTGTGTGT	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding		3414		chr4	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(9): Show TAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG03098.hp2 others(3): Show HG02559.hp2 HG02723.hp2 HG03098.hp2 HG03239.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0001g0186 others(2): Show a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0213 a0001c0001t0003g0018	6	448	0.0134	16	c.44 others(27): Show c.4479_*4494dupCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(9): Show CTTTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	398	0.0025	16	c.976 others(31): Show c.976-215_976-214insAAGAAAGAAAGAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(9): Show CTTTTTCTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0156 a0001c0001t0001g0157	2	398	0.0050	16	c.976 others(31): Show c.976-215_976-214insAAAAGAAAAAGAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	16	c.13 others(27): Show c.1332_*1333insAAAAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		900		chr10	TogoVar
COMT_chr22_19936772_19974975	19941860	G G	GGGGCGGG others(9): Show GGGGCGGGTCCAGTCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0030 a0001c0005t0030	a0001c0005t0030g0038 a0001c0005t0030g0038	1	426	0.0024	16	c.-12 others(25): Show c.-121_-106dupTCCAGTCCCGGGCGGG	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/6	20643	INFO_REALIGN_3_PRIME	chr22	TogoVar
COP1_chr1_175939831_176212286	175949168	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03927.hp2 HG03942.hp2 HG02738.hp2 HG03927.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0027 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0027	3	300	0.0100	16	c.213 others(35): Show c.2134-1945_2134-1930dupTTTTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG03041.hp1 others(1): Show HG01891.hp2 HG02615.hp1 HG03041.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0077 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0095	4	300	0.0133	16	c.213 others(35): Show c.2134-4214_2134-4199dupATATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar

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